Enlarging brain xanthomas in a patient with cerebrotendinous xanthomatosis

Excerpt

Cerebrotendinous xanthomatosis (CTX) is a rare metabolic disorder caused by the inherited deficiency of the mitochondrial enzyme sterol 27-hydroxylase, which results in reduced synthesis of bile acids and systemic accumulation of cholestanol and cholesterol (Federico et al. 2003). Sterol storage in the central nervous system is the main cause of disability in this disease. Brain xanthomas and degenerative brain changes at magnetic resonance imaging (MRI) are among the hallmarks of CTX. Chenodeoxycholic acid (CDCA) taken orally is standard therapy in patients with CTX on account of its ability to normalize the altered bile synthesis (Berginer et al. 1984). Here we report a 56-year old patient with CTX whose MRIs showed a marked enlargement of two brain xanthomas despite maintenance CDCA treatment since age 31 (Fig. 1).

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